A new National Institutes of Health-funded study found that 14% of cerebral palsy cases, one of the most common childhood disabilities, includes an important genetic component. The results come from the largest study of genes and cerebral palsy and will help researchers develop better treatments for some children with cerebral palsy.
Determining Cause in Cerebral Palsy
One in 323 American children has cerebral palsy, a condition with no cure. It affects the motor system, causing a range of disabilities from mild mobility issues to complete reliance on a wheelchair. Cerebral palsy also causes complications, such as learning disabilities, deafness, and behavioral conditions.
The causes of cerebral palsy have long been debated, and it is not always possible to find the exact cause in an individual. Complications during fetal development, labor, and delivery are definite risk factors. Birth injuries, such as skull fractures and asphyxiation, can also cause the condition. Researchers have also explored a genetic connection, but the current study is the strongest confirmation.
The Study
Previous studies, beginning in the early 2000s, found gene mutations linked to cerebral palsy. Not until this large study have researchers been able to pinpoint the exact genes involved and make a reasonable estimate of how many cases are due to genetic mutation.
Led by the Washington University School of Medicine, researchers looked at spontaneous mutations in 250 families in the U.S., Australia, and China. These are rare mutations that occur in cells as errors occur during DNA copying.
The researchers looked at these mutations present in children with cerebral palsy and not in their parents to pinpoint the genes responsible for the condition. Among the participants, 14% had mutations researchers concluded caused cerebral palsy. The genes are known to be involved in wiring brain circuits during early development. Other studies have connected them to mobility.
Some of the genes with mutations have also been implicated in cognitive disabilities, epilepsy, and autisms spectrum disorders. These are all conditions that co-occur with cerebral palsy in many children. This supports the idea that cerebral palsy is a spectrum of disabilities, not just one condition.
Implications for Treatment
The importance of the research is two-fold: it helps understand how cerebral palsy develops, and it could lead to better treatments for children with cerebral palsy caused by mutations. Knowing which genes trigger the condition will help doctors and researchers develop personalized treatments for better results.
A greater understanding of how cerebral palsy develops may even lead to better prevention. For now, good prenatal and maternal healthcare is the best way to prevent cerebral palsy in a newborn.
